title: A Case of Congenital Erythropoietic Porphyria without Hemolysis.
abstract: Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis.
authors.affiliation: Department of Pediatric Medicine, Medical College, Kolkata, India.
authors.forename: Arun K
authors.initials: AK
authors.lastname: De
authors.forename: Kallol
authors.initials: K
authors.lastname: Das
authors.forename: Archan
authors.initials: A
authors.lastname: Sil
authors.forename: Swarnali
authors.initials: S
authors.lastname: Joardar
keywords: Bullous porphyria; congenital erythropoietic porphyria; photosensitivity